Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene. We have investigated this mutation in five Brazilian patients: four with typical FRDA findings and one patient with atypical manifestations, who was considered to have some other form of cerebellar ataxia with retained reflexes. The GAA expansion was detected in all these patients. The confirmation of FRDA diagnosis in the atypical case may be pointing out, as in other reports, that clinical spectrum of Friedreich’s ataxia is broader than previously recognised and includes cases with intact tendon reflexes
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion ...
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion ...
Friedreich’s ataxia is a neurodegenerative disorder associated with a GAA trinucleotide repeat expan...
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by h...
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by h...
Friedreich ataxia (FRDA) is the most common autosomal recessive ataxia in Caucasian populations. It ...
Introduction: Friedreich’s ataxia is a neurodegenerative disorder whose clinical diagnostic criteria...
Friedreich ataxia (FRDA) is a rare autosomal recessive hereditary disorder caused by expansion of a ...
Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central...
Friedreich ataxia is an autosomal recessive disorder caused by mutations in the FRDA gene that encod...
Friedreich ataxia is an autosomal recessive disorder caused by mutations in the FRDA gene that encod...
Atypical Friedreich's ataxia was diagnosed by DNA-analysis in 4 patients, 2 men aged 70 and 67 and 2...
We describe three siblings from an Italian family affected by an autosomal recessive spinocerebellar...
We describe three siblings from an Italian family affected by an autosomal recessive spinocerebellar...
We describe three siblings from an Italian family affected by an autosomal recessive spinocerebellar...
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion ...
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion ...
Friedreich’s ataxia is a neurodegenerative disorder associated with a GAA trinucleotide repeat expan...
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by h...
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by h...
Friedreich ataxia (FRDA) is the most common autosomal recessive ataxia in Caucasian populations. It ...
Introduction: Friedreich’s ataxia is a neurodegenerative disorder whose clinical diagnostic criteria...
Friedreich ataxia (FRDA) is a rare autosomal recessive hereditary disorder caused by expansion of a ...
Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central...
Friedreich ataxia is an autosomal recessive disorder caused by mutations in the FRDA gene that encod...
Friedreich ataxia is an autosomal recessive disorder caused by mutations in the FRDA gene that encod...
Atypical Friedreich's ataxia was diagnosed by DNA-analysis in 4 patients, 2 men aged 70 and 67 and 2...
We describe three siblings from an Italian family affected by an autosomal recessive spinocerebellar...
We describe three siblings from an Italian family affected by an autosomal recessive spinocerebellar...
We describe three siblings from an Italian family affected by an autosomal recessive spinocerebellar...
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion ...
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion ...
Friedreich’s ataxia is a neurodegenerative disorder associated with a GAA trinucleotide repeat expan...
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